rs183298179 Rat Genome Database

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Variant: rs183298179 -  Homo sapiens

RGD ID: 11544822
RS ID: rs183298179
ClinVar ID: CV253457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,721,930
GRCh38 9 134,830,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001278074.1:c.5068-24A>G
NG_008030.1:g.193279A>G
NC_000009.12:g.134830084A>G
NC_000009.11:g.137721930A>G
More... 		06/28/2018 intron variant benign|likely benign AllHighlyPenetrant; EDS I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV253457HumanEhlers-Danlos syndrome classic type 1  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1ClinVarPMID:25741868
CV253457HumanMultifocal Fibromuscular Dysplasia  IAGP 8554872ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCALClinVarPMID:25741868
Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

.
PMID:25741868  



1 to 15 of 15 rows
Database
Acc Id
Source(s)
ClinVar RCV000244302 CLINVAR
  RCV001658150 CLINVAR
  RCV002270131 CLINVAR
  RCV002270132 CLINVAR
dbSNP (RS) rs183298179 CLINVAR
MedGen C0268335 CLINVAR
  C3661900 CLINVAR
  C5543412 CLINVAR
  CN169374 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
  619329 CLINVAR
SNOMED CT 83470009 CLINVAR
1 to 15 of 15 rows